Amyloidosis is a group of diseases in which abnormal proteins, called amyloid proteins, accumulate in organs or organ systems such as the heart, kidneys, nervous system or gastrointestinal tract. There are different types of amyloidosis, dependent on the type of protein being deposited in tissues.

The most common form of amyloidosis in the United States is called primary amyloid. In primary amyloid, the protein being deposited is a part of the antibody protein called the light chain.

Primary amyloid is now a treatable disease. The mainstays of therapy are the same agents used to treat a related bone marrow cancer, called multiple myeloma. Treatment options include chemotherapy, corticosteroid medicines, biologic agents, and in some instances, autologous stem cell transplantation. The goal of therapy is to halt the buildup of amyloid protein in organs and to prolong life.

Fortunately, amyloidosis is rare, affecting about eight out of every 1 million people annually. The majority of those affected are more than 40 years of age and 60 percent are male, although the condition can affect anyone. The cause is unknown.

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Types of Amyloidosis

There are three main types of amyloidosis:

  • Primary Amyloid — This is a plasma cell disorder originating in the bone marrow. Abnormal cells produce antibody proteins which deposit as amyloid. It is the most common type of amyloidosis in the United States, affecting 2,000 people each year.

    This condition, which is usually treated with chemotherapy, is not considered to be a type of cancer. However, it may be associated with multiple myeloma, which is a type of bone cancer. The severity of the illness often depends on the number and extent of organ involvement.
  • Secondary Amyloid — This condition is caused by a chronic infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever (an intestinal disorder), osteomyelitis (infection of bone) or inflammatory disorders of the bowel. The amyloid deposits in this type of the disease are made up of a protein called the AA protein. Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow or stop the progression of this type of amyloid.
  • Familial (or Hereditary) Amyloid — This rare form of amyloid is the only type that is inherited. It affects families of nearly every ethnic background. The deposits in this type are most commonly made up of the transthyretin protein produced in the liver. The condition results from a mutation in this protein. Liver transplant is used to cure this form of amyloid.
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Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. Some people may not experience any symptoms and others may have many symptoms. Frequently described symptoms include:

  • Weakness
  • Weight loss
  • Shortness of breath
  • Numbness or tingling in the hands or feet
  • Diarrhea
  • Severe fatigue
  • An enlarged tongue
  • Feeling full after eating smaller amounts of food than usual
  • Dizziness upon standing
  • Swelling of the ankles or legs
  • Fainting spells
  • Palpitations of the heart

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A complete medical history and physical examination is essential for diagnosing amyloidosis. Blood, urine and bone marrow tests also must be performed. Blood or urine tests can detect the amyloid proteins, but only bone marrow tests or other small samples of tissue — called biopsies — can positively establish the diagnosis of amyloidosis.

A small tissue sample, or biopsy, will often be taken from the abdominal fat, rectum, and/or bone marrow to confirm the diagnosis of amyloidosis. These biopsies are relatively minor procedures done in an outpatient clinic with a local anesthetic (numbing medication). Occasionally, samples need to be taken from damaged organs such as the liver, intestines, heart or kidney. The type of biopsy procedure required will vary from patient to patient.

Treatment of amyloidosis is given to improve symptoms and extend life. Treatment can limit further production of amyloid proteins and, in some instances, promote the breakdown of amyloid proteins in affected organs. The type of treatment required varies depending on the type of amyloidosis and the patient's symptoms.

With secondary amyloid, the main goal of therapy is to treat the underlying condition — for example, taking an anti-inflammatory medication for rheumatoid arthritis or antibiotics for an infection.

In hereditary amyloid, liver transplantation has been the most effective therapy. The new liver does not produce the abnormal amyloid proteins and consequently the disease improves. Investigational drugs are also being evaluated to try and prevent this type of amyloid protein from depositing in organs.

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